Sandra C. Wilson (Doelken)
Sandra C. Wilson (Doelken)
Department of Human Genetics, UKE, University of Hamburg
Email verificata su medizinische-genetik.de
TitoloCitata daAnno
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ...
Nucleic acids research 42 (D1), D966-D974, 2014
6642014
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
PM Krawitz, MR Schweiger, C Rödelsperger, C Marcelis, U Kölsch, ...
Nature genetics 42 (10), 827-829, 2010
3282010
Clinical diagnostics in human genetics with semantic similarity searches in ontologies
S Köhler, MH Schulz, P Krawitz, S Bauer, S Dölken, CE Ott, C Mundlos, ...
The American Journal of Human Genetics 85 (4), 457-464, 2009
3152009
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
T Zemojtel, S Köhler, L Mackenroth, M Jäger, J Hecht, P Krawitz, ...
Science translational medicine 6 (252), 252ra123-252ra123, 2014
1752014
Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research
S Köhler, SC Doelken, BJ Ruef, S Bauer, N Washington, M Westerfield, ...
F1000Research 2, 2013
772013
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
E Klopocki, S Lohan, SC Doelken, S Stricker, CW Ockeloen, ...
Journal of medical genetics 49 (2), 119-125, 2012
742012
MouseFinder: candidate disease genes from mouse phenotype data
CK Chen, CJ Mungall, GV Gkoutos, SC Doelken, S Köhler, BJ Ruef, ...
Human mutation 33 (5), 858-866, 2012
562012
Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora
T Groza, S Köhler, S Doelken, N Collier, A Oellrich, D Smedley, FM Couto, ...
Database 2015, 2015
492015
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome
S Lohan, M Spielmann, SC Doelken, R Flöttmann, F Muhammad, ...
Clinical Genetics 86 (4), 318-325, 2014
442014
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and …
SC Doelken, S Köhler, CJ Mungall, GV Gkoutos, BJ Ruef, C Smith, ...
Disease models & mechanisms 6 (2), 358-372, 2013
402013
Ontological phenotype standards for neurogenetics
S Köhler, SC Doelken, A Rath, S Aymé, PN Robinson
Human mutation 33 (9), 1333-1339, 2012
372012
Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management
S Heidemann, C Fischer, C Engel, B Fischer, L Harder, B Schlegelberger, ...
Breast cancer research and treatment 134 (3), 1229-1239, 2012
312012
A GDF5 point mutation strikes twice-causing BDA1 and SYNS2
E Degenkolbe, J König, J Zimmer, M Walther, C Reißner, J Nickel, ...
PLoS genetics 9 (10), 2013
282013
Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein
G Guo, P Gehle, S Doelken, JL Martin-Ventura, Y Von Kodolitsch, ...
PloS one 6 (5), 2011
282011
No evidence for simian virus 40 DNA sequences in malignant non‐Hodgkin lymphomas
F Schüler, SC Dölken, C Hirt, MT Dölken, R Mentel, LG Gürtler, G Dölken
International journal of cancer 118 (2), 498-504, 2006
242006
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
N Tayebi, A Jamsheer, R Flöttmann, A Sowinska-Seidler, SC Doelken, ...
Orphanet journal of rare diseases 9 (1), 108, 2014
232014
Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations
DM Ibrahim, P Hansen, C Rödelsperger, AC Stiege, SC Doelken, D Horn, ...
Genome research 23 (12), 2091-2102, 2013
222013
Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion
A Jamsheer, T Zemojtel, M Kolanczyk, S Stricker, J Hecht, P Krawitz, ...
Journal of medical genetics 50 (9), 579-584, 2013
212013
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project
WS Oetting, PN Robinson, MS Greenblatt, RG Cotton, T Beck, JC Carey, ...
Human mutation 34 (4), 661-666, 2013
192013
Clinical interpretation of CNVs with cross-species phenotype data
S Köhler, U Schoeneberg, JC Czeschik, SC Doelken, JY Hehir-Kwa, ...
Journal of medical genetics 51 (11), 766-772, 2014
172014
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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